Product
Help
Pricing
About
Jobs
Log in
Get started
Author
Add to collection
Osama Atawneh
Observed names:
Osama M. Atawneh,
Osama N M Atawneh,
Osamah Atawneh
Observed institutions:
Medical University of South Carolina,
Al-Quds University,
Palestine Polytechnic University,
UCL Queen Square Institute of Neurology,
University College London
OpenAlex ID:
A5047428319
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019
·
Vincenzo Salpietro
, Christine L. Dixon
, et al.
·
Nature Communications
·
251
A Congenital Neutrophil Defect Syndrome Associated with Mutations inVPS45
2013
·
Thierry Vilboux
, Atar Lev
, et al.
·
New England Journal of Medicine
·
144
PDF
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
2020
·
Lucia V. Schottlaender
, Rosella Abeti
, et al.
·
The American Journal of Human Genetics
·
88
PDF
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019
·
Stephanie Efthymiou
, Vincenzo Salpietro
, et al.
·
Brain
·
85
PDF
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
2020
·
Caroline Neuray
, Reza Maroofian
, et al.
·
Brain
·
54
PDF
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation
2013
·
Ehud Banne
, Osama Atawneh
, et al.
·
Journal of Medical Genetics
·
31
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
2022
·
Elisa Calì
, Sheng-Jia Lin
, et al.
·
Genetics in Medicine
·
17
PDF
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay
2021
·
Hagar Mor‐Shaked
, Somaya Salah
, et al.
·
Clinical Genetics
·
14
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
2015
·
Simon Edvardson
, Haibo Wang
, et al.
·
Neurogenetics
·
13
Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia
2019
·
Gali Heimer
, Geeske M. Woerden
, et al.
·
Human Mutation
·
10
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
2023
·
Vincenzo Salpietro
, Reza Maroofian
, et al.
·
The American Journal of Human Genetics
·
9
PDF
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
2024
·
Elisa Cali
, Tania Quirin
, et al.
·
Genetics in Medicine
·
5
PDF
An Unusual Presentation of Succinic Semialdehyde Dehydrogenase Deficiency: A Fatal Case of Severe Progressive Seizures in a Four-Month-Old Infant
2024
·
Sara Idkaidak
, Lila H Abu-Hilal
, et al.
·
Cureus
·
1
PDF
Clinical Characteristics, and current perspectives of Kernicterus Spectrum Disorder in Palestine
2026
·
Ahmed Khammash
, Mohammad Ghannam
, et al.
·
Research Square
PDF
A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorder
2026
·
Christina Canavati
, Motee Ashhab
, et al.
·
BMC Medical Genomics
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
2026
·
Pilar Chacon-Millan
, Antonella Delicato
, et al.
·
The American Journal of Human Genetics
Mitochondrial HMG ‐ CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p. Ile56Asn ) Variant
2025
·
Yasmeen Alshami
, Osama Hroub
, et al.
·
Clinical Case Reports
PDF
Infantile-Onset Unverricht–Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History
2025
·
Basel Zaben
, Anas R. Tuqan
, et al.
·
Journal of Investigative Medicine High Impact Case Reports
A rare case report of small bowel leiomyosarcoma with literature review
2025
·
Qusai Belbaisi
, Hamza M A Ghaith
, et al.
·
Journal of Surgical Case Reports
PDF
COL4A1 ‐Related Leukoencephalopathy and Microangiopathy: A Case Series of Two Palestinian Siblings
2025
·
Thkra Meshal
, Amal M. Shawabka
, et al.
·
Clinical Case Reports
Very rare Palestinian case report of PRUNE1 p.Asp106Asn mutation: a mutation of global developmental delay
2025
·
Sara Idkaidak
, Lila H. Abu-Hilal
, et al.
·
Annals of Medicine and Surgery
Author response for "Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay"
2020
·
Hagar Mor‐Shaked
, Somaya Salah
, et al.
·
Publons reviews and discussion
Author response for "Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay"
2020
·
Hagar Mor‐Shaked
, Somaya Salah
, et al.
·
Publons reviews and discussion
Show more works
View as search
Works count:
23
Citation count:
722
H-index:
10
I10-index:
10
Year
Topic
Type
